GTR Test Accession:
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GTR000327158.3
Last updated in GTR:
2020-08-13
View version history
GTR000327158.3,
last updated:
2020-08-13
GTR000327158.2,
last updated:
2019-08-13
GTR000327158.1,
registered in GTR:
2018-08-20
Last annual review date for the lab: 2024-07-22
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (1):
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Silver-Russell syndrome 1
Chromosome 7
Methods (1):
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Molecular Genetics - Uniparental disomy study (UPD): Microsatellite analysis
Target population: Help
The target population is patients suspected of having a diagnosis …
Clinical validity:
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Most cases of RSS are of unknown cause. Approximately 7-10% …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
CPT codes:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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All samples should be shipped via overnight delivery at room temperature.
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Uniparental Disomy (UPD) Testing
Confirmation of research findings
Uniparental Disomy (UPD) Testing
Test additional service:
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Custom Prenatal Testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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No
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Uniparental disomy study (UPD)
Microsatellite analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical validity:
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Most cases of RSS are of unknown cause. Approximately 7-10% of cases of RSS are caused by maternal uniparental disomy (UPD) for chromosome 7. Whereas maternal UPD of chromosome 7 gives rise to RSS, normal growth and development has been seen in individuals with paternal UPD 7. Multiple imprinted genes …
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View citations (1)
- Formate assay in body fluids: application in methanol poisoning. Makar AB, et al. Biochem Med. 1975;13(2):117-26. doi:10.1016/0006-2944(75)90147-7. PMID: 1. Saal H. (2004) Russell-Silver syndrome. www.genetests.org 2. Hoglund P, Holmberg C, de la Chapelle A, Kere J (1994) “Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea”. Am J Hum Genet 55:747–752. 3. Hannula et al. (2001) “A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region”. Am J Hum Genet 68: 247-253. 4. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K (2000) “Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome”. Am J Hum Genet 67:476-82. 5. Eggermann T, Schonherr N, Meyer E, Obermann C, Mavany M, Eggerman K, Rank M, Wollmann H. (2006). “Epigenetic mutations in 11p15 in Silver-Russel syndrome are restricted to the telomeric imprinting domain”. J Med Genet 43: 615-6..
Target population:
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The target population is patients suspected of having a diagnosis of Russell-Silver syndrome.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Research:
Is research allowed on the sample after clinical testing is complete?
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http://dnatesting.uchicago.edu/research-consent-form
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Clinical utility,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Sample negative report,
Sample positive report
Technical Information
Test Comments:
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Parental blood samples required
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100%
Accuracy 100%
Precision 100%
Assay limitations:
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This assay has been designed to determine the presence of total uniparental disomy of chromosome 7. The presence of partial uniparental disomy may not be picked up with this assay.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
VUS:
Software used to interpret novel variations
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A custom collection of bioinformatics tools
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations
A custom collection of bioinformatics tools
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Clinical resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
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NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.